Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451481_52451483delinsAAG , CM000665.2:g.52451481_52451483delinsAAG | GRCh38 |
| NC_000003.11:g.52485497_52485499delinsAAG , CM000665.1:g.52485497_52485499delinsAAG | GRCh37 |
| NC_000003.10:g.52460537_52460539delinsAAG | NCBI36 |
| NG_008963.1:g.7559_7561delinsCTT , LRG_378:g.7559_7561delinsCTT | |
| NG_033112.1:g.974_976delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.362_364delinsCTT MANE Select | NP_003271.1:p.Leu121ProfsTer2 |
| ENST00000232975.8:c.362_364delinsCTT MANE Select | ENSP00000232975.3:p.Leu121ProfsTer2 |
| NM_003280.2:c.362_364delinsCTT , LRG_378t1:c.362_364delinsCTT | NP_003271.1:p.Leu121ProfsTer2 |
| ENST00000232975.7:c.362_364delinsCTT | ENSP00000232975.3:p.Leu121ProfsTer2 |
| ENST00000461086.1:n.293_295delinsCTT | |
| ENST00000496590.1:c.230_232delinsCTT | ENSP00000420596.1:p.Leu77ProfsTer2 |